Gene Variant Detail

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Gene CBL
Variant C381R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL C381R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C381R is predicted to disrupt Cbl stability in computer models (PMID: 26676746), and results in activation of Elk and c-Jun and decreased Notch1 signaling in cell culture (PMID: 22591685), and therefore, is predicted to lead to a loss of Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL C381R

CBL mutant CBL inact mut CBL C381R

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Transcript NM_005188.4
gDNA chr11:g.119278211T>C
cDNA c.1141T>C
Protein p.C381R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278211T>C c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278211T>C c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_005188 chr11:g.119278211T>C c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278211T>C c.1141T>C p.C381R RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References